PROJECT SUMMARY ? GENETICS AND GENOMICS CORE The Genetics and Genomics Core provides advice, services and hands-on-training to Diabetes Research Training Center (DRTC) investigators on the design and implementation of genetics and genomics studies in diabetes-related research. The Core serves not only DRTC-affiliated investigators but also diabetes investigators carrying out diabetes-related research throughout the United States and internationally. The same technology making genomic variation information accessible to everyone requires increasingly sophisticated analytic strategies not in the repertoire of most investigators. The core focuses on the analysis and interpretation of genetic studies of diabetes, identification of diabetes- associated variants and predicted functionality of those variants. The Core maintains the Monogenic Diabetes Registry that provides clinical and genetic data on more than 700 individuals with a genetic form of diabetes representing a living biobank for cell biological and physiological studies. The growing awareness of the role of genetics as a primary cause of diabetes among patients and physicians has led the Core to become a national resource for genetic testing and interpretation of genetic testing results. In this regard, the Core has developed next generation sequencing based panels for screening for mutations in diabetes and obesity genes. It has also developed novel methods (PrediXcan and MetaXcan) for integrating genetic and gene expression data. The Genetics and Genomics Core integrates with the other Biomedical Research Cores by providing samples and data from patients with specific genetic forms of diabetes to the Cell Biology, Circadian Rhythms and Physiology Cores.